hal-00281481, version 1
Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors.
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Genes Chromosomes and Cancer / GENES CHROMOSOMES & CANCER 47, 3 (2008) 247-52
Abstract: A base substitution in the mouse Dnd1 gene resulting in a truncated Dnd protein has been shown to be responsible for germ cell loss and the development of testicular germ cell tumors (TGCT) in the 129 strain of mice. We investigated the human orthologue of this gene in 263 patients (165 with a family history of TGCT and 98 without) and found a rare heterozygous variant, p. Glu86Ala, in a single case. This variant was not present in control chromosomes (0/4,132). Analysis of the variant in an additional 842 index TGCT cases (269 with a family history of TGCT and 573 without) did not reveal any additional instances. The variant, p. Glu86Ala, is within a known functional domain of DND1 and is highly conserved through evolution. Although the variant may be a rare polymorphism, a change at such a highly conserved residue is characteristic of a disease-causing variant. Whether it is disease-causing or not, mutations in DND1 make, at most, a very small contribution to TGCT susceptibility in adults and adolescents.
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- Institute of cancer research
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- Institute of cancer research
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- Prince of Wales Hospital Randwick – University of New South Wales
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- Peter MacCallum Cancer Centre
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- Princess Margaret Hospital – University of Toronto
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- University hospital of Prague
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- Rigshospitalet
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- Institut d'Optique Graduate School (IOGS) – CNRS : UMR8501 – Université Paris XI - Paris Sud
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- THALES
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- Aucune
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- CNRS : UMR8019 – Université Lille I - Sciences et technologies
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- INSERM : U637 – IFR3 – Université Montpellier I
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- CNRS : UPR8001 – Université Paul Sabatier [UPS] - Toulouse III – Institut National Polytechnique de Toulouse - INPT – Institut National des Sciences Appliquées (INSA) - Toulouse
- 14:
- CNRS : UMR5208 – Université Claude Bernard - Lyon I – Ecole Centrale de Lyon – Institut National des Sciences Appliquées (INSA) - Lyon
- 15:
- CNRS : UMR8125 – Institut Gustave Roussy – Université Paris XI - Paris Sud
- 16:
- Assistance publique - Hôpitaux de Paris (AP-HP) – Hôpital Bicêtre – Université Paris XI - Paris Sud
- 17:
- CNRS : UMR5560 – Observatoire Midi-Pyrénées – INSU – Université Paul Sabatier [UPS] - Toulouse III
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- CERB
- 19:
- CNRS : FRE2939 – Institut Gustave Roussy – Université Paris XI - Paris Sud
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- IFP Energies Nouvelles
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- Institut Gustave Roussy
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- INSERM : U521
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- Institut Gustave Roussy – Département de médecine
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- Institut Gustave Roussy
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- Institut Gustave Roussy
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- Institut Curie – Université Paris V - Paris Descartes
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- Institut Curie
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- INSERM : U830 – Institut Curie – Université Pierre et Marie Curie [UPMC] - Paris VI
- 29:
- INSERM : U535 – IFR69 – Université Paris XI - Paris Sud
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- INSERM : U155
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- Phillips university
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- Klinikum Kassel GmbH
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- National Institute of Oncology
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- National Institute of Oncology
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- St James's hospital
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- University of Otago
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- Rikshospitalet-Radiumhospitalet Trust
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- Institute of Clinical Oncology
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- University hospital of Basel
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- Max-Planck-Institut
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- Google Inc.®
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- CNRS : UMR7504 – Université Louis Pasteur - Strasbourg I
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- Barts and The London Queen Mary's School of Medicine
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- NIH – National Cancer Institute
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- Abramson Family Cancer Research Institute – University of Pennsylvania School of Medicine
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- Keck School of Medicine
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- Strangeways Research Laboratory
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- University of Cambridge
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- Saint James's University Hospital
- Domain : Life Sciences/Other
- hal-00281481, version 1
- http://hal.archives-ouvertes.fr/hal-00281481
- oai:hal.archives-ouvertes.fr:hal-00281481
- From:
- Submitted on: Thursday, 22 May 2008 15:47:44
- Updated on: Friday, 15 October 2010 14:15:52


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